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Table 2 WES results of the subject’s parents

From: Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

  Gene transcript (RefSeq) Variant location Variant Zygosity Type
Father GHR
NM_001242399.2
Exon 6 c.556C>T
p.R186C
Het Missense
Mother AGBL1
NM_152336.2
Exon 22 c.2969G>C
p.C990S
Het Missense